mental retardation

Sotos Syndrome: Causes, Symptoms & Treatment

Sotos syndrome is a rare genetic disorder. It is characterized by accelerated body growth and somewhat delayed motor and language development in childhood. In adulthood, the typical symptoms are hardly noticeable. What is Sotos syndrome? Sotos syndrome represents a sporadically occurring rare malformation syndrome. In this condition, accelerated growth with disproportionate skull circumference (macrocephalus) and … Sotos Syndrome: Causes, Symptoms & Treatment

Microcephaly: Causes, Symptoms & Treatment

Microcephaly is one of the rarer malformations in humans. It is either genetic or acquired and is primarily manifested by a skull circumference that is too small. Children born with microcephaly often also have a smaller brain and show other physical and mental developmental abnormalities. However, there are also cases of microcephaly in which young … Microcephaly: Causes, Symptoms & Treatment

Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment

Nicolaides-Baraitser syndrome is a disease that affects only a small number of individuals. Nicolaides-Baraitser syndrome represents a congenital disorder that consequently exists in affected individuals from birth. Some symptoms only become apparent with increasing age. The leading symptoms of Nicolaides-Baraitser syndrome include abnormalities of the fingers, short stature, and disturbances in the hairiness of the … Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment

Argininosuccinic Acid Disease: Causes, Symptoms & Treatment

Argininosuccinic acid disease is a metabolic disorder that is already congenital. It is caused by a defect in the enzyme argininosuccinate lyase. What is argininosuccinic acid disease? Argininosuccinic acid disease (argininosuccinaturia) is a congenital urea cycle defect. Urea, which is one of the organic compounds, is formed in the liver. Urea is of considerable importance … Argininosuccinic Acid Disease: Causes, Symptoms & Treatment

Pallister-Killian Syndrome: Causes, Symptoms & Treatment

Pallister-Killian syndrome is a hereditary disease that leads to various anatomical abnormalities. In Germany and surrounding countries, only 38 cases of the syndrome are currently known. Thus, Pallister-Killian syndrome is a very rare disease. What is Pallister-Killian syndrome? Pallister-Killian syndrome, also called Teschler-Nicola syndrome or tetrasomy 12p mosaic, is a genetically inherited disorder. The syndrome … Pallister-Killian Syndrome: Causes, Symptoms & Treatment

Muscle-eye-brain Disease: Causes, Symptoms & Treatment

Muscle-eye-brain disease (MEB) belongs to the disease group of congenital muscular dystrophies, which in addition to severe dysfunction in the muscles also have malformations in the eyes and brain. All diseases of this group are hereditary. Any forms of muscle-eye-brain disease are incurable and lead to death in childhood or adolescence. What is muscle-eye-brain disease? … Muscle-eye-brain Disease: Causes, Symptoms & Treatment

Neurodegeneration with Iron Deposition in the Brain: Causes, Symptoms & Treatment

Neurodegeneration with iron deposition in the brain represents a disease that occurs with a very low frequency. The disease is also often referred to by the abbreviation NBIA in international medical jargon. Neurodegeneration with iron deposition in the brain leads to neurological degeneration. A typical feature of the disease is primarily that iron is deposited … Neurodegeneration with Iron Deposition in the Brain: Causes, Symptoms & Treatment

Partington Syndrome: Causes, Symptoms & Treatment

Partington syndrome is a congenital disorder that manifests in specific leading symptoms. For example, Partington syndrome is associated with mental retardation, dystonic movements of the hands, and dysarthria. Intellectual abilities are only mildly to moderately impaired in Partington syndrome. Partington syndrome represents an x-linked inherited disorder. What is Partington syndrome? Partington syndrome is enormously rare. … Partington Syndrome: Causes, Symptoms & Treatment